Curation DMD DMD

Gene DMD

Disease DMD

Inheritance XR

Score

0 + 0 = 0 / 18

Genetic + experimental = total

Classification

Refuted

Moderate

Definitive

Last Updated 05/14/2025

Pubs Reviewed 2

Publication Span 8.65 years

Publication Interval 8.65 years

Curator(s) Laurel Hiatt, Harriet Dashnow

Description

A GAA repeat expansion in DMD intron 62 was proposed as a possible contributor to Duchenne/Becker-like dystrophinopathy based on a single three-generation family in which affected female relatives carried expanded alleles and population controls in that study had smaller alleles¹. However, large population analyses found the proposed pathogenic genotype at frequencies far exceeding expectations for a highly penetrant early-onset X-linked disorder, supporting refutation of the DMD repeat expansion as a pathogenic disease-causing locus².

All criTRia Curations Locus Page

Genetic evidence

Total: 0

Per page

Category	Type	Citation	Score	Details
Singular Evidence	Probands	PMID:27417533	0	Single three-generation family reported with a DMD intron 62 GAA expansion (~59-82 repeats); two affected female relatives had chronic myopathy/dystrophinopathy-compatible findings, but the paper states that the repeat's phenotypic impact remains unresolved.
Collective Evidence	Computational	PMID:40140942	0	Large population analysis found proposed pathogenic genotypes at 4.705% in gnomAD males and 0.089% in gnomAD females, with similar expanded alleles in HPRC long-read data; these frequencies greatly exceed DMD prevalence, supporting the conclusion that the repeat expansion is unlikely to be pathogenic.

Experimental evidence

Total: 0

No experimental evidence details available.

References

Direct supporting references for info on this page.

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

Kyriaki,Kekou, Christalena,Sofocleous, George,Papadimas, Dimitris,Petichakis, Maria,Svingou, Roser-Maria,Pons, Pelagia,Vorgia, Artemis,Gika, Sophia,Kitsiou-Tzeli, Emmanuel,Kanavakis

Molecular and cellular probes · 2016-07-12

pmid:27417533

2pmid:40140942

Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.